ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA313977
Gene: CLN6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
205174
ClinVar RCV Id:
RCV000187103
RCV000665630
RCV000803026
RCV002282022
RCV002478655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060352.1:p.Ala243Val
CA313976
NM_017882.3:c.728C>T